BLOC1S3

Description

The BLOC1S3 gene encodes a protein essential for the biogenesis of the biogenesis of lysosomal organelles complex (BLOC-1). This complex is crucial for the proper sorting and trafficking of lysosomal enzymes and proteins within cells. BLOC-1 mutations can disrupt lysosomal function, leading to a spectrum of genetic disorders.

Associated Diseases

• Chediak-Higashi syndrome (CHS)
• Griscelli syndrome type 2 (GS2)
• Hermansky-Pudlak syndrome (HPS) type 4

Did you know?

Mutations in BLOC1S3 are associated with albinism, a condition characterized by a lack of melanin pigment, due to impaired lysosomal trafficking of melanin precursors.